TRiXi: A Multi-Target Tandem Repeat-Based Method for Accurate Detection of X-Inactivation Skewing in Humans

Abstract excerpt

<h4>ABSTRACT</h4> Preferential usage of either X-chromosome, skewed X-inactivation (sXCI), can profoundly alter the penetrance and expressivity of X-linked traits in females, often with life-threatening consequences. Despite its clinical relevance, the true frequency, origins, and stability of sXCI in human tissues remain poorly understood, in part due to a lack of effective and sensitive methods for assessing XC...

Topics

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• Chromosomes, Human, X
• Genes, X-Linked
• Genome, Human
• Organ Specificity
• Sequence Analysis, RNA
• Single-Cell Analysis
• Transcriptome
• X Chromosome Inactivation

Identifiers and source

Literature Corpus work

e3c63732-71e5-55d8-8d97-ca8b5bcc1a2c

DOI

10.1101/2025.11.24.25340860